title: Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).
abstract: We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.
authors.affiliation: Dipartimento di Scienze Neurologiche, Università degli Studi di Roma La Sapienza, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Fiorelli
authors.forename: V
authors.initials: V
authors.lastname: Di Piero
authors.forename: S
authors.initials: S
authors.lastname: Bastianello
authors.forename: L
authors.initials: L
authors.lastname: Bozzao
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000125:Achilles Tendon / Q000473:pathology; D000328:Adult; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics; D002531:Cerebellum / Q000473:pathology; D002784:Cholesterol / Q000097:blood; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008636:Mesencephalon / Q000473:pathology; D014973:Xanthomatosis / Q000175:diagnosis* / Q000235:genetics
chemical_list: D002784:Cholesterol